Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | GREB1 tissue expression is associated with organ-confined prostate cancer. | Antunes AA, etal., Urol Oncol. 2012 Jan-Feb;30(1):16-20. doi: 10.1016/j.urolonc.2009.09.014. Epub 2009 Nov 27. |
2. | Control of transcriptional elongation. | Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11. |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
NELFCD (Homo sapiens - human) |
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Nelfcd (Mus musculus - house mouse) |
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Nelfcd (Rattus norvegicus - Norway rat) |
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Nelfcd (Chinchilla lanigera - long-tailed chinchilla) |
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NELFCD (Pan paniscus - bonobo/pygmy chimpanzee) |
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NELFCD (Canis lupus familiaris - dog) |
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Nelfcd (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NELFCD (Sus scrofa - pig) |
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NELFCD (Chlorocebus sabaeus - green monkey) |
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Nelfcd (Heterocephalus glaber - naked mole-rat) |
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Variants in NELFCD
17 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 | copy number gain | See cases [RCV000135622] | Chr20:55630597..60941207 [GRCh38] Chr20:54220678..59516263 [GRCh37] Chr20:53639062..58949658 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 | copy number gain | See cases [RCV000138035] | Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33 |
pathogenic |
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 | copy number gain | See cases [RCV000141347] | Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 | copy number gain | See cases [RCV000143584] | Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 | copy number gain | See cases [RCV000511980] | Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_198976.4(NELFCD):c.1344+10C>T | single nucleotide variant | not provided [RCV000966092] | Chr20:58993122 [GRCh38] Chr20:57568177 [GRCh37] Chr20:20q13.32 |
benign |
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) | copy number gain | not provided [RCV000767669] | Chr20:54143747..62194881 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV002254579] | Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.925A>G (p.Thr309Ala) | single nucleotide variant | Inborn genetic diseases [RCV003273968] | Chr20:58991046 [GRCh38] Chr20:57566101 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 | copy number gain | not provided [RCV001007097] | Chr20:55743522..62032989 [GRCh37] Chr20:20q13.31-13.33 |
pathogenic |
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 | copy number gain | not provided [RCV001007098] | Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
NC_000020.10:g.(?_56993257)_(57967907_?)dup | duplication | Amyotrophic lateral sclerosis type 8 [RCV001324796] | Chr20:56993257..57967907 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 | copy number gain | not provided [RCV001537917] | Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) | copy number gain | not specified [RCV002052713] | Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365) | copy number loss | not specified [RCV002052712] | Chr20:55292205..57866365 [GRCh37] Chr20:20q13.31-13.32 |
pathogenic |
NC_000020.10:g.(?_54823900)_(57899514_?)del | deletion | not provided [RCV001900543] | Chr20:54823900..57899514 [GRCh37] Chr20:20q13.2-13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.-9G>C | single nucleotide variant | Inborn genetic diseases [RCV003288232] | Chr20:58981301 [GRCh38] Chr20:57556356 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.932T>C (p.Met311Thr) | single nucleotide variant | Inborn genetic diseases [RCV002817946] | Chr20:58991053 [GRCh38] Chr20:57566108 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.10G>A (p.Asp4Asn) | single nucleotide variant | Inborn genetic diseases [RCV002901867] | Chr20:58981319 [GRCh38] Chr20:57556374 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.1348A>G (p.Ser450Gly) | single nucleotide variant | Inborn genetic diseases [RCV002911801] | Chr20:58993452 [GRCh38] Chr20:57568507 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.99G>T (p.Glu33Asp) | single nucleotide variant | Inborn genetic diseases [RCV002822292] | Chr20:58986131 [GRCh38] Chr20:57561186 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.712G>A (p.Val238Met) | single nucleotide variant | Inborn genetic diseases [RCV002826667] | Chr20:58989912 [GRCh38] Chr20:57564967 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.383C>G (p.Thr128Ser) | single nucleotide variant | Inborn genetic diseases [RCV002664680] | Chr20:58987804 [GRCh38] Chr20:57562859 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.915C>G (p.Phe305Leu) | single nucleotide variant | Inborn genetic diseases [RCV002854867] | Chr20:58991036 [GRCh38] Chr20:57566091 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.1060G>T (p.Ala354Ser) | single nucleotide variant | Inborn genetic diseases [RCV002719331] | Chr20:58991417 [GRCh38] Chr20:57566472 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.50A>G (p.Asp17Gly) | single nucleotide variant | Inborn genetic diseases [RCV003213583] | Chr20:58981359 [GRCh38] Chr20:57556414 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.-3A>G | single nucleotide variant | Inborn genetic diseases [RCV003194238] | Chr20:58981307 [GRCh38] Chr20:57556362 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.1538A>G (p.Lys513Arg) | single nucleotide variant | Inborn genetic diseases [RCV003212264] | Chr20:58993721 [GRCh38] Chr20:57568776 [GRCh37] Chr20:20q13.32 |
uncertain significance |
NM_198976.4(NELFCD):c.1693C>T (p.Pro565Ser) | single nucleotide variant | Inborn genetic diseases [RCV003287834] | Chr20:58994221 [GRCh38] Chr20:57569276 [GRCh37] Chr20:20q13.32 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 | copy number gain | See cases [RCV003329549] | Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33 |
uncertain significance |
NM_198976.4(NELFCD):c.1021C>A (p.Gln341Lys) | single nucleotide variant | Inborn genetic diseases [RCV003345684] | Chr20:58991378 [GRCh38] Chr20:57566433 [GRCh37] Chr20:20q13.32 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
TH1L_9726 |
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RH48060 |
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A004R34 |
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AL031482 |
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SHGC-31778 |
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TH1L |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 2439 | 2714 | 1710 | 611 | 1766 | 452 | 4356 | 2111 | 3698 | 412 | 1460 | 1610 | 175 | 1 | 1204 | 2787 | 6 | 2 |
Low | 277 | 16 | 13 | 185 | 13 | 1 | 86 | 36 | 7 | 3 | 1 | |||||||
Below cutoff |
RefSeq Acc Id: | ENST00000460601 ⟹ ENSP00000436783 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000464363 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000471621 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000474543 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000477741 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000478389 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000479207 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000482747 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000486263 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000490205 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000492016 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000497935 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000602795 ⟹ ENSP00000473290 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000652272 ⟹ ENSP00000499018 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_198976 ⟹ NP_945327 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047440188 ⟹ XP_047296144 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054323481 ⟹ XP_054179456 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_945327 ⟸ NM_198976 |
- UniProtKB: | Q9UGN3 (UniProtKB/Swiss-Prot), Q9UGN2 (UniProtKB/Swiss-Prot), Q9UGN1 (UniProtKB/Swiss-Prot), Q9P029 (UniProtKB/Swiss-Prot), Q9NVX5 (UniProtKB/Swiss-Prot), Q9H8T3 (UniProtKB/Swiss-Prot), Q9H888 (UniProtKB/Swiss-Prot), Q9H405 (UniProtKB/Swiss-Prot), Q9BYL2 (UniProtKB/Swiss-Prot), Q8IXH7 (UniProtKB/Swiss-Prot), B4DE06 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000499018 ⟸ ENST00000652272 |
RefSeq Acc Id: | ENSP00000473290 ⟸ ENST00000602795 |
RefSeq Acc Id: | ENSP00000436783 ⟸ ENST00000460601 |
RefSeq Acc Id: | XP_047296144 ⟸ XM_047440188 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_054179456 ⟸ XM_054323481 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8IXH7-F1-model_v2 | AlphaFold | Q8IXH7 | 1-590 | view protein structure |
RGD ID: | 6799147 | ||||||||
Promoter ID: | HG_KWN:39999 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000079908, OTTHUMT00000079909, OTTHUMT00000079912, OTTHUMT00000079913, OTTHUMT00000268088, UC002YAF.1, UC002YAH.1 | ||||||||
Position: |
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RGD ID: | 6799127 | ||||||||
Promoter ID: | HG_KWN:40001 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000079906 | ||||||||
Position: |
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RGD ID: | 6799131 | ||||||||
Promoter ID: | HG_KWN:40002 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000079904, OTTHUMT00000079910, OTTHUMT00000268087, OTTHUMT00000268089 | ||||||||
Position: |
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RGD ID: | 6799128 | ||||||||
Promoter ID: | HG_KWN:40003 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | HeLa_S3, K562, Lymphoblastoid | ||||||||
Transcripts: | OTTHUMT00000079911 | ||||||||
Position: |
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RGD ID: | 13602256 | ||||||||
Promoter ID: | EPDNEW_H27312 | ||||||||
Type: | initiation region | ||||||||
Name: | NELFCD_1 | ||||||||
Description: | negative elongation factor complex member C/D | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:15934 | AgrOrtholog |
COSMIC | NELFCD | COSMIC |
Ensembl Genes | ENSG00000101158 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000460601.5 | UniProtKB/TrEMBL |
ENST00000602795.6 | UniProtKB/TrEMBL | |
ENST00000652272 | ENTREZGENE | |
ENST00000652272.2 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000101158 | GTEx |
HGNC ID | HGNC:15934 | ENTREZGENE |
Human Proteome Map | NELFCD | Human Proteome Map |
InterPro | TH1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:51497 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 51497 | ENTREZGENE |
OMIM | 605297 | OMIM |
PANTHER | NEGATIVE ELONGATION FACTOR C/D | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12144 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | TH1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA38055 | PharmGKB |
UniProt | B4DE06 | ENTREZGENE |
H0UI80_HUMAN | UniProtKB/TrEMBL | |
NELFD_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q9BYL2 | ENTREZGENE | |
Q9H405 | ENTREZGENE | |
Q9H888 | ENTREZGENE | |
Q9H8T3 | ENTREZGENE | |
Q9NVX5 | ENTREZGENE | |
Q9P029 | ENTREZGENE | |
Q9UGN1 | ENTREZGENE | |
Q9UGN2 | ENTREZGENE | |
Q9UGN3 | ENTREZGENE | |
X6RLT1_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B4DE06 | UniProtKB/Swiss-Prot |
H0UI81 | UniProtKB/TrEMBL | |
Q9BYL2 | UniProtKB/Swiss-Prot | |
Q9H405 | UniProtKB/Swiss-Prot | |
Q9H888 | UniProtKB/Swiss-Prot | |
Q9H8T3 | UniProtKB/Swiss-Prot | |
Q9NVX5 | UniProtKB/Swiss-Prot | |
Q9P029 | UniProtKB/Swiss-Prot | |
Q9UGN1 | UniProtKB/Swiss-Prot | |
Q9UGN2 | UniProtKB/Swiss-Prot | |
Q9UGN3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2013-02-06 | NELFCD | negative elongation factor complex member C/D | TH1L | TH1-like (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |